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Results: 455
Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.
Genetic disorders of thyroid development, hormone biosynthesis and signalling.
Carla Moran, Nadia Schoenmakers, W Edward Visser, Erik Schoenmakers, Maura Agostini, Krishna Chatterjee
Sep 06, 2022
DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom.
Catherine Peters, Adeline K Nicholas, Erik Schoenmakers, Greta Lyons, Shirley Langham, Eva G Serra, Neil J Sebire, Marina Muzza, Laura Fugazzola, Nadia Schoenmakers
May 03, 2019
Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins.
Carla Moran, Maura Agostini, Anne McGowan, Erik Schoenmakers, Louise Fairall, Greta Lyons, Odelia Rajanayagam, Laura Watson, Amaka Offiah, John Barton, Susan Price, John Schwabe, Krishna Chatterjee
Sep 29, 2018
BACKGROUND: Resistance to thyroid hormone alpha (RTHα), a disorder characterized by tissue-selective hypothyroidism and near-normal thyroid function tests due to thyroid receptor alpha gene mutations, is rare but probably...
dominant negative resistance to thyroid hormone alpha thyroid hormone action thyroid hormone receptor alpha Adolescent Genetic Predisposition to Disease Genotype Humans Male Mutation Phenotype Symptom Assessment Thyroid Hormone Receptors alpha Thyroid Hormone Resistance Syndrome Thyroxine Treatment Outcome Young Adult
Germ Line Mutations in the Thyroid Hormone Receptor Alpha Gene Predispose to Cutaneous Tags and Melanocytic Nevi.
Emery Di Cicco, Carla Moran, W Edward Visser, Annarita Nappi, Erik Schoenmakers, Pamela Todd, Greta Lyons, Mehul Dattani, Raffaele Ambrosio, Silvia Parisi, Domenico Salvatore, Krishna Chatterjee, Monica Dentice
Jan 15, 2021
Background: Many physiological effects of thyroid hormone (TH) are mediated by its canonical action via nuclear receptors (TH receptor α and β [TRα and TRβ]) to regulate transcription of target genes. Heterozygous dominant...
Contrasting Instructional Technology Adoption in K-12 Education to Promote Digital Equity
This quantitative study examined the frequency of usage and teacher perception of educational technology by K - 12 public school teachers in three geographic settings: urban, rural, and suburban. The objective aimed to uncover...
Published by: IGI Global Scientific Publishing
Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development.
Teresa G Krieger, Carla M Moran, Alberto Frangini, W Edward Visser, Erik Schoenmakers, Francesco Muntoni, Chris A Clark, David Gadian, Wui K Chong, Adam Kuczynski, Mehul Dattani, Greta Lyons, Alexandra Efthymiadou, Faraneh Varga-Khadem, Benjamin D Simons, Krishna Chatterjee, Frederick J Livesey
Nov 05, 2019
A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations.
Maura Agostini, Erik Schoenmakers, Junaid Beig, Louise Fairall, Istvan Szatmari, Odelia Rajanayagam, Frederick W Muskett, Claire Adams, A David Marais, Stephen O'Rahilly, Robert K Semple, Laszlo Nagy, Amit R Majithia, John WR Schwabe, Dirk J Blom, Rinki Murphy, Krishna Chatterjee, David B Savage
Jun 28, 2018
Loss-of-function mutations in PPARG cause familial partial lipodystrophy type 3 (FPLD3) and severe metabolic disease in many patients. Missense mutations in PPARG are present in ∼1 in 500 people. Although mutations are often...
Adolescent Adult Amino Acid Substitution Binding Sites Female Gene Expression Regulation Genes Reporter HEK293 Cells Humans Hypoglycemic Agents Ligands lipodystrophy Familial Partial Models Molecular Molecular Conformation Molecular Docking Simulation Mutation Missense PPAR gamma Pharmacogenetics Pioglitazone Protein Conformation Recombinant Proteins Rosiglitazone Thiazolidinediones Young Adult
Vitamin D expenditure is not altered in pregnancy and lactation despite changes in vitamin D metabolite concentrations.
Pregnancy and lactation are associated with changes in vitamin D and calcium metabolism but the impact of these changes on vitamin D expenditure is unknown. We measured plasma 25(OH)D3 half-life with a stable-isotope tracer and...
Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland.
AK Nicholas, S Jaleel, G Lyons, E Schoenmakers, MT Dattani, E Crowne, B Bernhard, J Kirk, EF Roche, VK Chatterjee, N Schoenmakers
Aug 08, 2016
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
Hakan Cangul, Xiao-Hui Liao, Erik Schoenmakers, Jukka Kero, Sharon Barone, Panudda Srichomkwun, Hideyuki Iwayama, Eva G Serra, Halil Saglam, Erdal Eren, Omer Tarim, Adeline K Nicholas, Ilona Zvetkova, Carl A Anderson, Fiona E Karet Frankl, Kristien Boelaert, Marja Ojaniemi, Jarmo Jääskeläinen, Konrad Patyra, Christoffer Löf, E Dillwyn Williams, UK10K consortium, Manoocher Soleimani, Timothy Barrett, Eamonn R Maher, V Krishna Chatterjee, Samuel Refetoff, Nadia Schoenmakers
Dec 04, 2018
Defects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous CH and show that...
Endocrinology Genetics Molecular genetics Monogenic diseases Thyroid disease Adult Animals Antiporters Child Child Preschool Codon Nonsense congenital hypothyroidism DNA Mutational Analysis Female Goiter HEK293 Cells Homozygote Humans Male Mice Mice Knockout Middle Aged Pedigree Sulfate Transporters Thyroid Gland Exome Sequencing
Genetics of Gland- in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia
Nikolina Zdraveska, Mirjana Kocova, Adeline K. Nicholas, Violeta Anastasovska, Nadia Schoenmakers
Jul 28, 2020
Neonatal screening in Macedonia detects congenital hypothyroidism (CH) with an incidence of 1 in 1,585, and more than 50% of cases exhibit a normally located gland-in-situ (GIS). Monogenic mutations causing dyshormonogenesis may...
Haploinsufficiency of NKX2-1 in Brain-Lung-Thyroid Syndrome with Additional Multiple Pituitary Dysfunction.
INTRODUCTION: Heterozygous mutations or haploinsufficiency of NKX2-1 are associated with the brain-lung-thyroid syndrome incorporating primary hypothyroidism, respiratory distress, and neurological disturbances. CASE...
Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia.
Nikolina Zdraveska, Mirjana Kocova, Adeline K Nicholas, Violeta Anastasovska, Nadia Schoenmakers
May 27, 2020
congenital hypothyroidism dyshormonogenesis Genes Goiter Iodine screening thyroid hypoplasia Child Child Preschool congenital hypothyroidism High-Throughput Nucleotide Sequencing Humans Infant Infant Newborn Mutation PAX8 Transcription Factor Phenotype Receptors Thyrotropin Republic of North Macedonia Thyroid Dysgenesis
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism
Congenital hypothyroidism (CH) may be primary, due to a defect affecting the thyroid gland itself, or central, due to impaired thyroid-stimulating hormone (TSH)-mediated stimulation of the thyroid gland as a result of...
Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation
Vitamin D Status Increases During Pregnancy and in Response to Vitamin D Supplementation in Rural Gambian Women
Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.
Adeline K Nicholas, Eva G Serra, Hakan Cangul, Saif Alyaarubi, Irfan Ullah, Erik Schoenmakers, Asma Deeb, Abdelhadi M Habeb, Mohammad Almaghamsi, Catherine Peters, Nisha Nathwani, Zehra Aycan, Halil Saglam, Ece Bober, Mehul Dattani, Savitha Shenoy, Philip G Murray, Amir Babiker, Ruben Willemsen, Ajay Thankamony, Greta Lyons, Rachael Irwin, Raja Padidela, Kavitha Tharian, Justin H Davies, Vijith Puthi, Soo-Mi Park, Ahmed F Massoud, John W Gregory, Assunta Albanese, Evelien Pease-Gevers, Howard Martin, Kim Brugger, Eamonn R Maher, V Krishna K Chatterjee, Carl A Anderson, Nadia Schoenmakers
Sep 30, 2016
Digenic DUOX1 and DUOX2 mutations in cases with congenital hypothyroidism
Z Aycan, H Cangul, M Muzza, VN Bas, L Fugazzola, VK Chatterjee, L Persani, N Schoenmakers
Aug 01, 2017
Context: The DUOX2 enzyme generates hydrogen peroxide (H2O2), a crucial electron acceptor for the TPO-catalyzed iodination and coupling reactions mediating thyroid hormone biosynthesis. DUOX2 mutations result in...
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